Howell-Evans syndrome Flashcards
1
Q
Howell-Evans syndrome sketch:
A
Think about Evan from medical school and he is howling like a wolf.
- He was a big, dominant guy reminding you of autosomal dominant inheritance
- He was so built from lifting that his body was the shape of a rhomboid, this reminds you of the RHBDF2 (rhomboid 5 homolog 2) gene mutation
- He is making a tik TOC, to remind you of the TOC (tylosis and esophageal Cancer gene locus)
- He has focal-weight bearing, non-transgradiens PPK (think of calluses) that he got from lifting so much in his 20’s (PPK starts in second decade)
- He is Howling to remind you of the esophageal carcinoma and oral leukoplakia that are seen in third decade of life